Blue Rubber Bleb Nevus Syndrome with Musculo-skeletal Involvement and Pulmonary Stenosis.

BACKGROUND: Blue rubber bleb nevus syndrome is a rare clinical entity. CASE CHARACTERISTICS: A 13-year-old Indian boy presented with characteristic cutaneous lesions, gastrointestinal malformations, skeletal involvement and pulmonary stenosis. OBSERVATIONS: Diagnosis was confirmed on skin biopsy, radiographic evaluation, colonoscopy and echocardiography. Echocardiography revealed pulmonary stenosis, an association hitherto undescribed. MESSAGE: Detailed evaluation in a patient of blue rubber bleb nerves syndrome is mandatory.